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Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes

✍ Scribed by Lieve Nuytinck,Raymond Dalgleish,Loretta Spotila,Jean-Pierre Renard…


Book ID
118291697
Publisher
Springer
Year
1996
Tongue
English
Weight
94 KB
Volume
97
Category
Article
ISSN
0340-6717

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✍ Allan M. Lund; Flemming Skovby; Marianne Schwartz 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 1 views

Osteogenesis imperfecta (OI) is a congenital disease of connective tissue, most often caused by single amino acid substitutions of glycine residues within the triple helical region of collagen I. Collagen I consists of two alpha 1 chains and one alpha 2 chain. Thus, a substitution in the alpha 1(I)